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Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Abstract
We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon 6 junction, that created a new alternative splice site. This expanded the deletion to 9 bp in mRNA, an in-frame deletion of the first 3 codons of exon 6 of the IDS gene. In two patients point mutations were identified, the S333L mutation, which has been reported previously, and A346D (a C-->A transversion at nucleotide 1161/exon 8), which is novel. Two patients had large 3' mRNA rearrangements. The A346D mutation was associated with the mild phenotype, all others with the severe form.
AuthorsT C Olsen, H G Eiken, P M Knappskog, B F Kase, J E Månsson, H Boman, J Apold
JournalHuman genetics (Hum Genet) Vol. 97 Issue 2 Pg. 198-203 (Feb 1996) ISSN: 0340-6717 [Print] Germany
PMID8566953 (Publication Type: Journal Article)
Chemical References
  • DNA, Complementary
  • Iduronate Sulfatase
Topics
  • Adolescent
  • Adult
  • Alternative Splicing
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • DNA, Complementary (genetics)
  • Genes (genetics)
  • Humans
  • Iduronate Sulfatase (genetics)
  • Molecular Sequence Data
  • Mucopolysaccharidosis II (genetics)
  • Mutation (genetics)
  • Norway
  • Polymerase Chain Reaction (methods)
  • Polymorphism, Single-Stranded Conformational

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